Ontology highlight
ABSTRACT:
PROVIDER: PRJNA695560 | ENA |
REPOSITORIES: ENA
Dataset's files
| Action | DRS | |||
|---|---|---|---|---|
| SRR13573587_1.fastq.gz | Fastqsanger.gz | |||
| SRR13573587_2.fastq.gz | Fastqsanger.gz | |||
| SRR13573588_1.fastq.gz | Fastqsanger.gz | |||
| SRR13573588_2.fastq.gz | Fastqsanger.gz |
Items per page: 5 1 - 4 of 4 |
Similar Datasets
Project description:Primary objectives: The primary objective is to investigate circulating tumor DNA (ctDNA) via deep sequencing for mutation detection and by whole genome sequencing for copy number analyses before start (baseline) with regorafenib and at defined time points during administration of regorafenib for treatment efficacy in colorectal cancer patients in terms of overall survival (OS).
Primary endpoints: circulating tumor DNA (ctDNA) via deep sequencing for mutation detection and by whole genome sequencing for copy number analyses before start (baseline) with regorafenib and at defined time points during administration of regorafenib for treatment efficacy in colorectal cancer patients in terms of overall survival (OS).
| 2533916 | ecrin-mdr-crc
Project description:Characterization of methylation changes related do KDM5C c.807delC (p.V271X) Mutations in KDM5C (lysine (K)-specific demethylase 5C) were associated to up to 3% of the X-linked ID cases. Males carrying KDM5C mutations present reduced activity of the KDM5C protein, increasing H3K4 tri-methylation, which ultimately leads to up-regulation of KDM5C target genes. Whole-exome sequencingi n one of three brothers with intellectual disability followed by confirmation by Sanger sequencing in the family identified a frameshift mutation in the KDM5C exon 7 that devoid of the JmjC catalytic domain from the protein. Two other brothers also presenting intellectual disability as well as in their clinically normal mother, who had completely skewed X-inactivation also had the mutation. An empirical Bayesian analysis of methylation levels between cases and controls identified 399 differentially methylated positions, 288 hypomethylated and 111 hypermethylated.Among the genes associated with the hypomethylated CpGs were FBXL5 and CACYBP, both involved in the ubiquitination pathway.
2018-11-30 | GSE108423 | GEO
Project description:Epigenetics (DNA methylation) profiling of sperm from Monozygotic (MZ) twin bull brothers comparing with each other Two-condition experiment, DNA methylation analysis of sperm from Monozygotic twin bull brothers which were hybridized as dye-swap in two-color arrays in a dye-balanced design.
2015-12-31 | E-GEOD-74200 | biostudies-arrayexpress
Project description:Kallmann syndrome is a genetically heterogeneous condition and a treatable form of male infertility. Defects in KAL1 gene have been implicated in Kallmann syndrome, which can be associated with X-linked ichthyosis in contiguous gene syndromes. In order to uncover the genetic cause of two brothers with Kallmann syndrome and X-linked ichthyosis, a custom semiconductor targeted resequencing panel to detect seventeen Kallmann syndrome causal genes and STS gene was designed. Next-generation sequencing was performed using this panel in the two affected brothers and their normal parents. To validate the result, we applied CytoScan⢠HD array, quantitative real-time PCR and direct PCR electrophoresis analysis with the participants. The patients received clinical assessment, human chorionic gonadotropin treatment and follow-up for 39 months. The results showed that the two affected siblings have the same de novo deletion at Xp22.3 including exons 9-14 of KAL1 gene and entire STS gene but showed different phenotypes in some respects. The secondary sex characteristics of the patients were greatly improved after treatment. We firstly reported that a de novo homozygous deletion contribute to KS with bilateral cryptorchidism and unilateral renal agenesis or normal kidney development and developed a cost-effective and reliable semiconductor targeted resequencing panel for genetic diagnosis of Kallmann syndrome in routinely obtained samples. One of the two brothers with Kallmann syndrome and X-linked ichthyosis was analyzed for validation the results of the deletion detected by next-generation sequencing.
2015-12-05 | E-GEOD-58793 | biostudies-arrayexpress
Project description:Whole-genome sequencing in multiplex epilepsy families
| PRJNA231701 | ENA
Project description:Whole-genome sequencing in multiplex epilepsy families
| PRJNA231702 | ENA
Project description:Kallmann syndrome is a genetically heterogeneous condition and a treatable form of male infertility. Defects in KAL1 gene have been implicated in Kallmann syndrome, which can be associated with X-linked ichthyosis in contiguous gene syndromes. In order to uncover the genetic cause of two brothers with Kallmann syndrome and X-linked ichthyosis, a custom semiconductor targeted resequencing panel to detect seventeen Kallmann syndrome causal genes and STS gene was designed. Next-generation sequencing was performed using this panel in the two affected brothers and their normal parents. To validate the result, we applied CytoScan™ HD array, quantitative real-time PCR and direct PCR electrophoresis analysis with the participants. The patients received clinical assessment, human chorionic gonadotropin treatment and follow-up for 39 months. The results showed that the two affected siblings have the same de novo deletion at Xp22.3 including exons 9-14 of KAL1 gene and entire STS gene but showed different phenotypes in some respects. The secondary sex characteristics of the patients were greatly improved after treatment. We firstly reported that a de novo homozygous deletion contribute to KS with bilateral cryptorchidism and unilateral renal agenesis or normal kidney development and developed a cost-effective and reliable semiconductor targeted resequencing panel for genetic diagnosis of Kallmann syndrome in routinely obtained samples.
2015-12-05 | GSE58793 | GEO
Project description:In this study, nonsense-mediated mRNA decay (NMD) inhibition was used for the discovery of truncating mutations. Six prostate cancer (PRCA) patients and their healthy brothers were selected from a group of HPCX1-linked families. mRNA was isolated from their lymphoblastic cells after pharmacological treatment. Expression analyses were done using Agilent 44K oligoarrays, and selected genes were screened for mutations by sequencing. In order to identify genes containing inactivating mutations in the Xq27-q28 region, an NMD microarray analysis with Agilent 44K Whole Human Genome oligonucleotide microarrays was performed in the families showing the strongest linkage to HPCX1. Five families were chosen with 6 affected and 6 healthy controls. Lymphoblastoid cell lines were derived from whole blood and treated with emetine to block NMD pathway. Total RNA was extracted from harvested cells (treated and untreated) and labeled with Cy5 and Cy3. Labeled samples were hybridized to the Agilent 44K Whole Human Genome Oligonucleotide Microarrays. After hybridization microarrays were scanned and data was extracted using Feature Extraction software. The candidate genes (n=17) for subsequent sequence analysis were selected according to the microarray analysis.
2011-12-31 | E-GEOD-24204 | biostudies-arrayexpress
Project description:Epilepsy is a heterogenous group of disorders defined by recurrent seizure activity due to abnormal synchronized activity of neurons. A growing number of epilepsy cases are believed to be caused by genetic factors and copy number variants (CNV) contribute to up to 5% of epilepsy cases. However, CNVs in epilepsy are usually large deletions or duplications involving multiple neurodevelopmental genes. Here we identify focal amplifications of regulatory regions of receptor tyrosine kinase genes as a genetic abnormality in epileptogenic brains. Whole genome DNA methylation profiling identified three main clusters of which one showed strong association with receptor tyrosine kinase genes. By copy number analysis, we identified focal copy number gains involving EGFR and PDGFRA in brain tissue of patients who underwent seizure focus resection for treatment-resistant epilepsy. The dysplastic neurons showed marked overexpression of pEGFR and pPDGFRA, while glial and endothelial cells were negative. Sequencing and DNA methylation analysis revealed that enhancer regions of EGFR and PDGFRA gene promoter were amplified, while coding regions did not show copy number abnormalities or somatic mutations. Our results identify somatic focal copy number gains of noncoding regulatory regions in the brain as a previously unrecognized genetic driver in epilepsy. Somatic copy number aberrations of regulatory regions represent a mechanism of abnormal activation of receptor tyrosine kinase genes in epilepsy. Upregulated receptor tyrosine kinases provide a potential avenue for therapy in seizure disorders.
2021-07-13 | GSE157989 | GEO